{{Rsnum
|rsid=118203426
|Chromosome=9
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=TSC1
|position=132921429
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=TSC1
}}{{omim
|id=605284
|rsnum=118203426
|variant=0008
}}{{ClinVar
|rsid=118203426
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=135796816
|CHROM=9
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=TSC1:7248
|GENE_NAME=TSC1
|GENE_ID=7248
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.135796816A>C
|CLNSRC=OMIM Allelic Variant; Tuberous sclerosis database (TSC1)
|CLNORIGIN=1
|CLNSRCID=605284.0008; TSC1_00036
|CLNSIG=5
|CLNCUI=C1854465
|CLNDBN=Tuberous sclerosis 1; Tuberous sclerosis syndrome
|Disease=Tuberous sclerosis 1; Tuberous sclerosis syndrome
|CLNACC=RCV000005411.1; RCV000042336.2
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1220:C1854465:191100:805; NBK1220:C0041341:191100:7199000
}}{{PMID Auto
|PMID=10227394
|Title=Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
|OA=1
}}

{{PMID Auto
|PMID=18032745
|Title=Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
}}

{{PMID Auto
|PMID=18830229
|Title=Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
|OA=1
}}